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Motor Neurone Disease (MND) is an incurable disease that causes progressive wasting and weakness of muscles involved in movement, speaking, swallowing and breathing. Most patients die within five years of symptom onset. At present there is no specific test for MND, with diagnosis relying on the recognition of typical features by doctors and exclusion of a number of other conditions. The lack of diagnostic test or disease signatures (biomarkers) can result in substantial delays in diagnosis as well as potential for diagnostic errors, and has implications in accessing appropriate care and management.

It is well recognised that small molecules called microRNAs regulate the expression of different proteins within cells, influencing how each cell grows and functions. These microRNAs may remain inside the cells in which they are produced, or may be released into the circulation to influence surrounding cells and tissues (‘circulating microRNAs’). It has been shown by Professor Chhetri and his colleagues, as well as by others, that the patterns of microRNAs in the biofluids (e.g. blood) of patients with various conditions, including brain tumours, are altered compared to those of healthy counterparts. Thus, they have the potential to act as biomarkers for diagnosis.

A few recent studies have shown that the expression of microRNAs within tissues can be altered in patients with MND, but the relevance of these altered patterns is unknown. Based on these initial studies, Professor Chhetri and colleagues think that alterations in microRNAs will also show a distinctive pattern in the biofluids of patients with MND. They will therefore collect blood samples from patients with MND and from age- and sex-matched healthy individuals, and screen these samples to reveal their specific microRNA signatures.

It is anticipated that this study will identify a unique panel of altered circulating microRNAs which will permit the development of a simple test for the early and accurate diagnosis of MND.